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Amyloidosis

Author: Vanessa Ngan, Staff Writer, 2003.

What is amyloidosis?

Amyloidosis is the term used for a group of diseases where one or more body organs accumulate various insoluble proteins (amyloid) in amounts to cause dysfunction of the organ system. Organs often affected include the heart, kidney, gastrointestinal tract, nervous system and skin. Amyloidosis of the skin is called cutaneous amyloidosis. In this condition, amyloid or amyloid-like proteins are deposited in the dermis layer of skin.

Types of amyloidosis

There are three major types of amyloidosis:

Primary amyloidosis

This disorder of protein metabolism originates in the bone marrow and is occasionally associated with multiple myeloma. It is sometimes also referred to as amyloid L chain type (AL) amyloidosis.

Amyloidosis confined to the skin is called primary localisedcutaneous amyloidosis. Several different types of primary localisedcutaneous amyloidosis exist. These include lichen amyloidosis, macular amyloidosis and nodular primary localisedcutaneous amyloidosis.

Secondary systemic amyloidosis

This occurs as a complication of many chronicinflammatory diseases such as rheumatoid arthritis and osteomyelitis.

It is also known as amyloid A (AA) amyloidosis and is the most common form of systemic amyloidosis worldwide.

The kidney, liver and spleen are the organs are most affected in secondary systemic amyloidosis. Skin involvement is rarely a feature of the disease.

Familial (hereditary) amyloidosis

This is a rare form of amyloidosis that is inherited and most commonly affects the kidneys. It is due to a mutated gene on chromosome 5.

Clinical features of primary amyloidosis

Distinctive clinical features are found for each type of primary amyloidosis.

Systemic amyloidosis

The signs and symptoms of primary systemic amyloidosis are generally non-specific and include:

Fatigue

Weight-loss

Oedema

Shortness of breath

Light headedness

Numbness, tingling sensation

Hoarseness

These may precede the diagnosis by up to two years. However, when they present together with the following specific symptoms, systemic amyloidosis should be considered a possible diagnosis.

Carpal tunnel syndrome: disturbance of median nerve function in the wrist as the nerve passes through the carpal tunnel.

Skin lesions

The most common skin findings are petechiae (small red blood spots) and ecchymoses (small, flat blood spots that are round or irregular shape and bluish/purplish in colour).

Waxy papules, nodules or plaques may be found around the eyelids, neck, groin and anogenital area.

Blood-filled blisters may form for example on pinching the skin.

The nails may be crumbly and brittle.

Patches of hair loss may arise.

Macroglossia: this refers to an enlarged and firm tongue covered in blood spots, plaques and blisters.

Oedema (tissue swelling) develops as a result of heart failure or nephrotic syndrome (kidney disease).

Hepatomegaly (enlarged liver).

Systemic amyloidosis

Lichen amyloidosis

This is the most common form of primary localisedcutaneous amyloidosis.

It presents as an intensely itchy rash on the shins, thighs, feet, and forearms.

Lesions consist of multiple raised spots (papules) that are scaly and red/brown in colour.

Papules may coalesce into thickened plaques.

It appears to be more common in people of Chinese descent and in males.

It most often occurs between 50-60 years of age.

It may be a variant of lichen simplex.

Lichen amyloidosis

Macular amyloidosis

In this case lesions appear as flat dusky-brown or greyish coloured spots that may coalesce to form patches of darkened skin.

The degree of itchiness varies from mild to severe.

Lesions are usually distributed symmetrically over the upper back between the shoulder blades, on the chest and sometimes on the arms.

It appears to be more common in Asians, South Americans and Middle Easterners.

It usually presents in early adult life and appears to affect women more frequently than men.

Macular amyloidosis

Nodular primary localisedcutaneous amyloidosis

This is the rarest form of primary localisedcutaneous amyloidosis.

Single or multiple firm nodules or plaques may occur on the trunk, limbs, extremities, face, and genitals.

It is usually symptomless and patients seek medical attention for their appearance.

Nodules may be a few millimetres to a few centimetres in size and may be pinkish brown to red in colour.

Lesions tend not to ulcerate but some may crack or split, particularly those on the soles of the feet.

Nodular amyloidosis

Amyloidosis cutis dyschromicum

Amyloidosis cutis dyschromica is a newly described form of primary cutaneous amyloidosis that causes localisedhyperpigmentation and hypopigmentation.

How is the diagnosis made?

What is the treatment?

There is no specific treatment for primary systemic amyloidosis. Treatment is directed at maintaining the function of affected organs. For example kidney failure can be treated with dialysis and congestive heart failure with diuretics. Some treatments that have been tried with limited success include chemotherapy with melphalan and prednisone, and colchicine to inhibit amyloid deposition. Bone marrow ablation and transplantation is an experimental therapy. Most patients die within 1-2 years of diagnosis of primary systemic amyloidosis from heart and/or kidney failure.

The treatment of lichen and macular amyloidosis is focused on relieving itch. Sedating antihistamines can be moderately effective. Topical and intralesional steroids may provide some relief if used with other treatments. Other treatments tried include topical dimethyl sulfoxide (DMSO) and phototherapy (UVB) or PUVA).

Surgical treatment to remove amyloid deposits includes laser vaporization, dermabrasion, and excision of individual lesions. However, in most cases lesions recur.